Given a context passage, generate a question from the passage such that its answer is shortest continous span from the passage.

Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder resulting in the growth of a variety of tumours, and is inherited in an autosomal dominant pattern. Gastrointestinal stromal tumours (GISTs) are mesenchymal tumours that commonly harbour oncogenic mutations in KIT or PDGFRA and are thought to arise from the interstitial cells of Cajal (ICC; the pacemaker cells of the gut). To characterise two patients with NF1 and GISTs. Two patients were genotyped for germline mutations in NF1. GISTs from both patients were genotyped for somatic mutations in KIT and PDGFRA. Loss of heterozygosity (LOH) of NF1 in one GIST was assessed by genotyping seven microsatellite markers spanning 2.39 Mb of the NF1 locus in the tumour and in genomic DNA. The known germline mutation in NF1 was confirmed in GIST DNA by sequencing. The copy number of the mutated NF1 allele was determined by multiplex ligand-dependent probe amplification. GISTs from both patients were of wild type for mutations in KIT and PDGFRA. In the GIST with adequate DNA, all seven markers were informative and showed LOH at the NF1 locus; sequencing of NF1 from that GIST showed no wild-type sequence, suggesting that it was lost in the tumour. Multiplex ligand-dependent probe amplification analysis showed that two copies of all NF1 exons were present. This is the first evidence of mitotic recombination resulting in a reduction to homozygosity of a germline NF1 mutation in an NF1-associated GIST. We hypothesise that the LOH of NF1 and lack of KIT and PDGFRA mutations are evidence of an alternative pathogenesis in NF1-associated GISTs.
Which is the gene mutated in type 1 neurofibromatosis?

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a small vessel disease of the brain caused by mutations in the NOTCH3 gene. CADASIL progresses, in some cases, to subcortical dementia with a particular cognitive impairment. Different diseases in the dementia spectrum share a central cholinergic and sensorimotor plasticity alteration. We aimed to study different intracortical circuits and sensorimotor plasticity in CADASIL patients using transcranial magnetic stimulation protocols, and to determine whether these characteristics correlated with the results of clinical neuropsychological evaluation. Ten CADASIL patients and 10 healthy subjects were included in the study. All subjects underwent a transcranial magnetic stimulation study examining different intracortical circuits. Sensorimotor plasticity was also assessed using a paired associative stimulation and extensive neuropsychological tests. CADASIL patients showed a lack of intracortical facilitation, short latency afferent inhibition and sensorimotor plasticity when compared with control subjects. CADASIL patients also showed an altered neuropsychological profile. Correlation between sensorimotor plasticity and neuropsychological alterations was observed in CADASIL patients. These results suggest that acetylcholine and glutamate could be involved in the dementia process in CADASIL and that abnormal sensorimotor plasticity correlates with the neuropsychological profile in CADASIL patients.
Which gene is involved in CADASIL?

As a boy growing up in India, I had longed to travel abroad. I used to listen to the stories my father would tell me about his stay in Canada and tours to Europe in the 1970s, with great interest. My big moment finally came in the summer of 1998 when I was able to accompany my parents to Europe, where my father was to attend a meeting. We planned to travel to Belgium, Netherlands and West Germany. I have clear memories even today of going to Mumbai airport at night all excited about finally going abroad. I had heard several great things about Lufthansa till then but now I finally got to experience them first hand, during the flight to Frankfurt. We flew business class and even today I can remember the excellent service by the Lufthansa crew . The flight was really smooth and thoroughly enjoyable, even for someone like me, who is especially afraid of flying. After spending almost two weeks in Europe, we took the Lufthansa airport express from Dusseldorf to Frankfurt airport, for our return flight. What a journey that was! All along the Rhine , it was simply an unforgettable experience. I had a sombre feeling on the flight back to Mumbai as it marked the end of a wonderful vacation, but the Lufthansa crew members were able to change it into a most enjoyable experience yet again, with the quality of their service. Being the first airline to take me abroad, Lufthansa will always hold a special place in my heart. Even today,I continue to enjoy flights on Lufthansa and simply cannot dream of choosing any other airline. Flying, in general,for me,has always been a terrible and painful experience.Flying on Lufthansa,however, is something I always have and always will look forward to. ks5u

Which country does the author live in now?

